Publications by authors named "Frederique Sabourdy"

22Publications

Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and Hypotheses.

Cancers (Basel) 2020 Feb 18;12(2). Epub 2020 Feb 18.

INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), and Université Paul Sabatier, 31037 Toulouse, France.

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February 2020

First Report of a Patient with MPS Type VII, Due to Novel Mutations in , Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.

Int J Mol Sci 2019 Oct 28;20(21). Epub 2019 Oct 28.

Laboratoire de Biochimie Métabolique, Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse, 31059 Toulouse cedex 9, France.

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October 2019

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

JIMD Rep 2019 Mar 14;46(1):11-15. Epub 2019 Mar 14.

Laboratoire de Biochimie Métabolique Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse Toulouse France.

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March 2019

Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses.

Clin Chim Acta 2019 Aug 22;495:457-466. Epub 2019 May 22.

Laboratoire de Biochimie Métabolique, Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse, Toulouse, France; INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Université Paul Sabatier, Toulouse, France. Electronic address:

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August 2019

Chromatin-Bound MDM2 Regulates Serine Metabolism and Redox Homeostasis Independently of p53.

Mol Cell 2016 06 2;62(6):890-902. Epub 2016 Jun 2.

IRCM, Institut de Recherche en Cancérologie de Montpellier, 34298 Montpellier, France; INSERM, U1194, 34298 Montpellier, France; Université de Montpellier, 34298 Montpellier, France; Institut Régional du Cancer Montpellier, 34298 Montpellier, France. Electronic address:

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June 2016

[Hereditary peroxisomal diseases].

Presse Med 2016 Mar 18;45(3):302-12. Epub 2016 Feb 18.

Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; CHU Purpan, institut fédératif de biologie, laboratoire de biochimie métabolique, Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France. Electronic address:

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March 2016

Monogenic neurological disorders of sphingolipid metabolism.

Biochim Biophys Acta 2015 Aug 7;1851(8):1040-51. Epub 2015 Feb 7.

Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1037, Toulouse, France; Equipe Labellisée Ligue Nationale Contre le Cancer 2013, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université de Toulouse-III Paul Sabatier, Toulouse, France; Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France. Electronic address:

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August 2015

Human genetic disorders of sphingolipid biosynthesis.

J Inherit Metab Dis 2015 Jan 21;38(1):65-76. Epub 2014 Aug 21.

Centre de Recherches en Cancérologie de Toulouse (CRCT), Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1037, Team n 4, CHU Rangueil, BP, 84225, 31432, Toulouse, France.

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January 2015

Genetic disorders of simple sphingolipid metabolism.

Handb Exp Pharmacol 2013 (215):127-52

Institut National de la Santé et de la Recherche Médicale UMR1037, Centre de Recherches en Cancérologie de Toulouse, Team n°4, Université de Toulouse, CHU Rangueil, 84225, Toulouse Cedex 4, 31432, France.

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July 2013

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

J Inherit Metab Dis 2011 Apr 16;34(2):515-22. Epub 2010 Dec 16.

Service de Médecine Pédiatrique, CHRU de Tours, Université François Rabelais, Tours, France.

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April 2011

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

Clin Neurol Neurosurg 2009 Jan 5;111(1):109-10. Epub 2008 Nov 5.

Service de Neurologie CHU de 30029 Nîmes Nîmes Cedex, France.

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January 2009

Tumorigenic poxviruses: growth factors in a viral context?

J Gen Virol 2004 Dec;85(Pt 12):3597-3606

UMR1225 IHAP - ENVT, 23 chemin des Capelles, BP 87614, 31076 Toulouse CEDEX, France.

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December 2004

Transcriptome analysis of Sinorhizobium meliloti during symbiosis.

Genome Biol 2003 31;4(2):R15. Epub 2003 Jan 31.

Laboratoire de Biologie Moléculaire des Relations Plantes-Microorganismes, UMR 215 Centre National de la Recherche Scientifique - Institut National de la Recherche Agronomique, BP27-31326 Castanet-Tolosan cedex, France.

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March 2003